What is ACTHoma?
ACTHoma is a rare form of neuroendocrine tumour that produces excess Adrenocorticotropic hormones (ACTH), a hormone that regulates cortisol levels in the body. This overproduction can lead to a condition known as Ectopic Cushing Syndrome. ACTHomas can occur in various parts of the body, but they are most commonly found in the lungs and less frequently in the pancreas or thymus.Symptoms
The excess production of ACTH triggers the adrenal glands to produce too much cortisol, leading to Cushing syndrome. Symptoms of this condition may include:- Rapid weight gain, particularly around the face (creating a “moon face” appearance) and torso
- High blood pressure
- Skin changes such as purple stretch marks, easy bruising and slow healing of cuts and infections
- Fatigue
- Muscle weakness
- Mood changes such as depression or anxiety
- Irregular or absent menstrual periods in women
Disease Aetiology (Causes)
The exact cause of ACTHoma is currently unknown. These tumours are typically sporadic, but may also be associated with genetic conditions like Multiple Endocrine Neoplasia type 1 (MEN1).Diagnosis
Diagnosing ACTHoma involves a combination of:- Blood and urine tests to measure hormone levels, particularly cortisol and ACTH
- Imaging tests such as CT, MRI, or PET scans to locate the tumour
- Biopsy, where a small sample of the tumour is taken for examination under a microscope
Treatment
Treatment options for ACTHoma depend on the size and location of the tumour and may include:- Surgery to remove the tumour, which is the primary treatment option when possible
- Medications to control the production of ACTH and manage symptoms of Cushing syndrome
- Radiation therapy, typically used if surgery isn’t possible or if the tumour recurs
- Chemotherapy or targeted therapy, generally used in cases of advanced or metastatic disease